Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.050 0.600 5 2007 2018
dbSNP: rs25532
rs25532
5 0.851 0.160 17 30237152 upstream gene variant G/A snv 6.3E-02 0.030 0.667 3 2008 2018
dbSNP: rs16965628
rs16965628
3 0.882 0.040 17 30228407 intron variant G/C snv 0.14 0.020 0.500 2 2015 2018
dbSNP: rs28914832
rs28914832
3 0.925 0.120 17 30211356 missense variant T/C;G snv 7.4E-04 0.020 1.000 2 2011 2013